Open AccessRelevant Imaging Presentation of Erdheim-Chester Disease: A case-report
Author(s) -
P Jacob
Publication year - 2018
Publication title -
canadian journal of general internal medicine
Language(s) - English
Resource type - Journals
eISSN - 2369-1778
pISSN - 1911-1606
DOI - 10.22374/cjgim.v13i2.236
Subject(s) - erdheim–chester disease , medicine , osteosclerosis , histiocytosis , vemurafenib , pathology , asymptomatic , lung , pathological , histiocyte , radiology , disease , cancer , metastatic melanoma
Erdheim-Chester disease (ECD) is a rare non-Langerhans multisystemic histiocytosis. This disorder is characterised by CD68+/CDa1- foamy histiocytes infiltration in tissues, especially bones, retroperitoneum, heart, lung and brain. Clinical manifestations may range from asymptomatic bone lesions to multiorganic symptoms. Bone pain in lower extremities are however the most common symptoms. Typical imaging findings include symmetric dyaphyseal osteosclerosis of long bones, periaortic sheathing (“coated aorta”) and retroperitoneal infiltration (“hairy kidney”). Lung and brain radiological abnormalities may also be seen on imaging screening. BRAF-V600E mutation is associated with around half of ECD patients. Vemurafenib, a mutated BRAF inhibitor, is a promising treatment for patients with this mutation. We present the case of a 60 years old man who arrived with a pathological right humerus fracture, and who was first admitted for a tuberculosis suspicion. ECD was first suspected with imaging screening.